Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases. Ninety-four percent of patients were treated with long term noninvasive ventilation and 6% with continuous positive airway pressure. Treatment was initiated electively for 85% of patients, mainly on an abnormal overnight gas exchange recording (38% of patients). Noninvasive ventilation/continuous positive airway pressure was initiated during a respiratory exacerbation in 15% of patients. Mean duration of noninvasive ventilation/continuous positive airway pressure was 3.3 ± 3.1 years. Mean objective long term noninvasive ventilation/continuous positive airway pressure use was 8.0 ± 3.1 h/24. Spinal muscular atrophy, congenital myopathy/dystrophy, and Duchenne muscular dystrophy represented 83% of children with neuromuscular diseases treated with long term noninvasive ventilation in France. Screening for nocturnal hypoventilation was satisfactory as noninvasive ventilation /continuous positive airway pressure was predominantly initiated electively.

Primary ciliary dyskinesia and fungal infections: Two cases of allergic bronchopulmonary aspergillosis in children.

Primary ciliary dyskinesia (PCD) is a rare inherited disease that affects the movement of the respiratory cilia. The main clinical manifestations are chronic upper and lower respiratory symptoms and recurrent lung infections, particularly bacterial and viral infections. Fungal infections are not usually associated with PCD. Allergic bronchopulmonary aspergillosis (ABPA) is a rare complex immune hypersensitivity reaction to Aspergillus fumigatus reported in patients with asthma and cystic fibrosis. Only three cases of ABPA associated with adult PCD have been described in the literature. Herein, we reported on two cases of ABPA in two boys aged 10 and 13 years with PCD. Both had severe lung disease and chronic Pseudomonas aeruginosa infections. One patient was diagnosed according to the typical clinical features of ABPA, while the other was diagnosed during a scheduled visit with no clinical changes but worsening pulmonary function and radiologic anomalies. The diagnosis of ABPA was confirmed in the two patients who then improved after receiving specific treatment. These two cases were the first to describe the occurrence of ABPA in children with PCD. We recommend that physicians involved in the management of children with PCD be aware of this potential complication.